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Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 204-207, 2015.
Artigo em Chinês | WPRIM | ID: wpr-239504
ABSTRACT
<p><b>OBJECTIVE</b>To provide prenatal diagnosis for a pregnant woman who had given birth to a child with Fanconi anemia with combined next-generation sequencing (NGS) and Sanger sequencing.</p><p><b>METHODS</b>For the affected child, potential mutations of the FANCA gene were analyzed with NGS. Suspected mutation was verified with Sanger sequencing. For prenatal diagnosis, genomic DNA was extracted from cultured fetal amniotic fluid cells and subjected to analysis of the same mutations.</p><p><b>RESULTS</b>A low-frequency frameshifting mutation c.989_995del7 (p.H330LfsX2, inherited from his father) and a truncating mutation c.3971C>T (p.P1324L, inherited from his mother) have been identified in the affected child and considered to be pathogenic. The two mutations were subsequently verified by Sanger sequencing. Upon prenatal diagnosis, the fetus was found to carry two mutations.</p><p><b>CONCLUSION</b>The combined next-generation sequencing and Sanger sequencing can reduce the time for diagnosis and identify subtypes of Fanconi anemia and the mutational sites, which has enabled reliable prenatal diagnosis of this disease.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Diagnóstico Pré-Natal / Análise Mutacional de DNA / Dados de Sequência Molecular / Sequência de Bases / Polimorfismo de Nucleotídeo Único / Diagnóstico / Proteína do Grupo de Complementação A da Anemia de Fanconi / Anemia de Fanconi / Doenças Fetais / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Estudo diagnóstico Limite: Adulto / Criança, pré-escolar / Feminino / Humanos / Masculino / Gravidez Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2015 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Diagnóstico Pré-Natal / Análise Mutacional de DNA / Dados de Sequência Molecular / Sequência de Bases / Polimorfismo de Nucleotídeo Único / Diagnóstico / Proteína do Grupo de Complementação A da Anemia de Fanconi / Anemia de Fanconi / Doenças Fetais / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Estudo diagnóstico Limite: Adulto / Criança, pré-escolar / Feminino / Humanos / Masculino / Gravidez Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2015 Tipo de documento: Artigo